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Avellino corneal dystrophy(CDA)

MedGen UID:
220900
Concept ID:
C1275685
Disease or Syndrome
Synonyms: CDA; Combined granular-lattice corneal dystrophies; COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY; Granular and lattice corneal dystrophies; Granular corneal dystrophy type 2; GRANULAR CORNEAL DYSTROPHY, TYPE II; Granular-lattice (Avellino) corneal dystrophy
SNOMED CT: Avellino corneal dystrophy (397568004); Granular-lattice corneal dystrophy (397568004); Granular corneal dystrophy type II (397568004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TGFBI (5q31.1)
 
Monarch Initiative: MONDO:0011855
OMIM®: 607541
Orphanet: ORPHA98963

Definition

Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. [from ORDO]

Clinical features

From HPO
Lattice corneal dystrophy
MedGen UID:
56355
Concept ID:
C0155127
Disease or Syndrome
The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAvellino corneal dystrophy
Follow this link to review classifications for Avellino corneal dystrophy in Orphanet.

Professional guidelines

PubMed

Chang MS, Jun I, Kim EK
Korean J Ophthalmol 2023 Aug;37(4):340-347. Epub 2023 Jun 19 doi: 10.3341/kjo.2023.0032. PMID: 37336511Free PMC Article
Lisch W, Moller HU
Cornea 2011 Aug;30(8):949; author reply 949-50. doi: 10.1097/ICO.0b013e3182031e5c. PMID: 21617530
Long Y, Gu YS, Han W, Li XY, Yu P, Qi M
J Zhejiang Univ Sci B 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154. PMID: 21462384Free PMC Article

Recent clinical studies

Etiology

Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article
Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD
Ophthalmology 2010 Jul;117(7):1306-12.e4. Epub 2010 Mar 3 doi: 10.1016/j.ophtha.2009.11.021. PMID: 20202685
Park M, Kim DJ, Kim KJ, Hong CB, Kim YJ, Cheong HS, Shin HD, Lee EJ, Kim HN, Chung HW, Kim EK, Lee JY, Kim HL
Biochem Biophys Res Commun 2009 Oct 2;387(4):688-93. Epub 2009 Jul 19 doi: 10.1016/j.bbrc.2009.07.084. PMID: 19622345
Kim TI, Pak JH, Chae JB, Kim EK, Tchah H
Cornea 2006 Feb;25(2):220-3. doi: 10.1097/01.ico.0000164830.79970.71. PMID: 16371787
Dogru M, Katakami C, Nishida T, Yamanaka A
Ophthalmology 2001 Apr;108(4):810-7. doi: 10.1016/s0161-6420(00)00657-6. PMID: 11297503

Diagnosis

Hieda O, Kobayashi A, Sotozono C, Kinoshita S
J Refract Surg 2023 Jan;39(1):61-65. Epub 2023 Jan 1 doi: 10.3928/1081597X-20221129-01. PMID: 36630431
Rana RS, Bajracharya L, Gurung R
JNMA J Nepal Med Assoc 2021 Apr 30;59(236):406-408. doi: 10.31729/jnma.5726. PMID: 34508535Free PMC Article
Nagano C, Nozu K, Yamamura T, Minamikawa S, Fujimura J, Sakakibara N, Nakanishi K, Horinouchi T, Iwafuchi Y, Kusuhara S, Matsumiya W, Yoshikawa N, Iijima K
CEN Case Rep 2019 Feb;8(1):14-17. Epub 2018 Aug 7 doi: 10.1007/s13730-018-0356-8. PMID: 30088155Free PMC Article
Yoo SM, Kang T, Kim B, Lee SY
Chemistry 2011 Jul 25;17(31):8657-62. Epub 2011 Jun 16 doi: 10.1002/chem.201003372. PMID: 21681837
Dogru M, Katakami C, Nishida T, Yamanaka A
Ophthalmology 2001 Apr;108(4):810-7. doi: 10.1016/s0161-6420(00)00657-6. PMID: 11297503

Therapy

Han KE, Kim TI, Chung WS, Choi SI, Kim BY, Kim EK
Eye Contact Lens 2010 Sep;36(5):296-9. doi: 10.1097/ICL.0b013e3181ef0da0. PMID: 20724852
Lee JH, Stulting RD, Lee DH, Lee CS, Kim WC, Kim EK
J Refract Surg 2008 Jan;24(1):39-45. doi: 10.3928/1081597X-20080101-06. PMID: 18269147
Roh MI, Grossniklaus HE, Chung SH, Kang SJ, Kim WC, Kim EK
Cornea 2006 Apr;25(3):306-11. doi: 10.1097/01.ico.0000183536.07275.9a. PMID: 16633031
Kim TI, Pak JH, Chae JB, Kim EK, Tchah H
Cornea 2006 Feb;25(2):220-3. doi: 10.1097/01.ico.0000164830.79970.71. PMID: 16371787
Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK
Ophthalmology 2004 Mar;111(3):463-8. doi: 10.1016/j.ophtha.2003.06.026. PMID: 15019320

Prognosis

You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Mucke HA, Mucke P, Mucke E
Pharm Pat Anal 2012 May;1(2):165-75. doi: 10.4155/ppa.12.23. PMID: 24236781
Kim TI, Pak JH, Chae JB, Kim EK, Tchah H
Cornea 2006 Feb;25(2):220-3. doi: 10.1097/01.ico.0000164830.79970.71. PMID: 16371787
Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK
Ophthalmology 2004 Mar;111(3):463-8. doi: 10.1016/j.ophtha.2003.06.026. PMID: 15019320
Akiya S, Takahashi H, Nakano N, Hirose N, Tokuda Y
Ophthalmologica 1999;213(1):58-62. doi: 10.1159/000027395. PMID: 9838259

Clinical prediction guides

You JI, Park JR, Bang SK, Kim K, Oh WY, Yu SY, Jin KH
Int Ophthalmol 2021 Aug;41(8):2695-2703. Epub 2021 Apr 15 doi: 10.1007/s10792-021-01825-x. PMID: 33856597
Lee EJ, Kim KJ, Kim HN, Bok J, Jung SC, Kim EK, Lee JY, Kim HL
Exp Mol Med 2011 Jul 30;43(7):393-400. doi: 10.3858/emm.2011.43.7.043. PMID: 21628991Free PMC Article
Patel DA, Chang SH, Harocopos GJ, Vora SC, Thang DH, Huang AJ
Cornea 2010 Nov;29(11):1215-22. doi: 10.1097/ICO.0b013e3181d4f737. PMID: 20697279Free PMC Article
Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P
Mol Vis 2009;15:70-5. Epub 2009 Jan 14 PMID: 19145249Free PMC Article
Dogru M, Katakami C, Nishida T, Yamanaka A
Ophthalmology 2001 Apr;108(4):810-7. doi: 10.1016/s0161-6420(00)00657-6. PMID: 11297503

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